Incidental Mutation 'R8773:Asxl2'
| ID |
664551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asxl2
|
| Ensembl Gene |
ENSMUSG00000037486 |
| Gene Name |
ASXL transcriptional regulator 2 |
| Synonyms |
4930556B16Rik |
| MMRRC Submission |
068627-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R8773 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
3476857-3556852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3507200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 131
(K131E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092003]
[ENSMUST00000111215]
[ENSMUST00000144247]
[ENSMUST00000153102]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092003
AA Change: K131E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: K131E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HARE-HTH
|
11 |
83 |
1.2e-22 |
PFAM |
|
low complexity region
|
95 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
185 |
N/A |
INTRINSIC |
|
Pfam:ASXH
|
204 |
336 |
1.2e-52 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111215
AA Change: K131E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: K131E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HARE-HTH
|
11 |
83 |
3.6e-22 |
PFAM |
|
low complexity region
|
95 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
185 |
N/A |
INTRINSIC |
|
Pfam:ASXH
|
204 |
336 |
4.2e-52 |
PFAM |
|
low complexity region
|
614 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
658 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
1115 |
1124 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1251 |
N/A |
INTRINSIC |
|
Pfam:PHD_3
|
1305 |
1368 |
1.1e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138740
|
| SMART Domains |
Protein: ENSMUSP00000133639
Gene: ENSMUSG00000037486
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HARE-HTH
|
1 |
54 |
1.2e-16 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144247
AA Change: K131E
PolyPhen 2
Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486
AA Change: K131E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HARE-HTH
|
11 |
83 |
5.2e-23 |
PFAM |
|
low complexity region
|
95 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
244 |
N/A |
INTRINSIC |
|
Pfam:ASXH
|
252 |
384 |
7e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153102
AA Change: K131E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: K131E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HARE-HTH
|
11 |
83 |
1.6e-23 |
PFAM |
|
low complexity region
|
95 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
185 |
N/A |
INTRINSIC |
|
Pfam:ASXH
|
211 |
335 |
6.9e-38 |
PFAM |
|
low complexity region
|
614 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
658 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
1115 |
1124 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1251 |
N/A |
INTRINSIC |
|
Pfam:PHD_3
|
1308 |
1368 |
7.6e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: This gene encodes a homolog of the Drosophila Asx gene, which interacts with genes involved in axial patterning. Mice with mutations in this gene display abnormal patterning of the axial skeleton, suggesting a similar function in mice as in Drosophila. This gene may also be involved in bone mineral density, specifically osteoclastogenesis. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a severe hypomorphic allele display prenatal and postnatal lethality, premature death, vertebral transformations and splitting, decreased body weight, enlarged hearts, and age-related cardiac interstitial fibrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,314,062 (GRCm39) |
S539T |
possibly damaging |
Het |
| Abcc6 |
C |
T |
7: 45,634,569 (GRCm39) |
R1136Q |
probably benign |
Het |
| Abhd12b |
A |
C |
12: 70,213,708 (GRCm39) |
|
probably null |
Het |
| Agk |
T |
G |
6: 40,334,050 (GRCm39) |
V98G |
possibly damaging |
Het |
| Apbb2 |
A |
G |
5: 66,609,252 (GRCm39) |
S132P |
probably damaging |
Het |
| Apc2 |
T |
C |
10: 80,142,046 (GRCm39) |
S322P |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,293,667 (GRCm39) |
V486A |
probably benign |
Het |
| Atp13a4 |
A |
G |
16: 29,260,398 (GRCm39) |
V560A |
|
Het |
| Bnc1 |
C |
T |
7: 81,623,719 (GRCm39) |
G503S |
probably damaging |
Het |
| Bsn |
C |
A |
9: 107,987,704 (GRCm39) |
V2683F |
unknown |
Het |
| Btbd7 |
A |
T |
12: 102,804,241 (GRCm39) |
N266K |
probably benign |
Het |
| Ccdc121rt2 |
T |
C |
5: 112,597,681 (GRCm39) |
V76A |
probably benign |
Het |
| Cdca7l |
G |
A |
12: 117,839,346 (GRCm39) |
D350N |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,411,913 (GRCm39) |
D515G |
probably benign |
Het |
| Ciao2a |
A |
T |
9: 66,045,667 (GRCm39) |
N145I |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,696,171 (GRCm39) |
D3239V |
unknown |
Het |
| Col9a1 |
T |
A |
1: 24,224,208 (GRCm39) |
I130N |
unknown |
Het |
| Cr2 |
A |
G |
1: 194,840,913 (GRCm39) |
W460R |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,417,583 (GRCm39) |
F56S |
probably damaging |
Het |
| Dnaaf1 |
A |
G |
8: 120,302,194 (GRCm39) |
I32V |
probably benign |
Het |
| Dnah11 |
T |
A |
12: 117,958,950 (GRCm39) |
T2978S |
possibly damaging |
Het |
| Dsg2 |
T |
A |
18: 20,716,056 (GRCm39) |
D302E |
probably damaging |
Het |
| Faf1 |
T |
A |
4: 109,699,507 (GRCm39) |
F351I |
possibly damaging |
Het |
| Gimap8 |
C |
A |
6: 48,633,545 (GRCm39) |
Q455K |
probably benign |
Het |
| Hps6 |
C |
G |
19: 45,994,141 (GRCm39) |
R693G |
possibly damaging |
Het |
| Irx1 |
C |
T |
13: 72,107,635 (GRCm39) |
G349D |
probably damaging |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,710 (GRCm39) |
T271A |
possibly damaging |
Het |
| Mapkapk2 |
T |
C |
1: 130,983,679 (GRCm39) |
H308R |
probably damaging |
Het |
| Mast1 |
A |
T |
8: 85,642,953 (GRCm39) |
N947K |
probably damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,440,419 (GRCm39) |
I626F |
probably damaging |
Het |
| Mrtfa |
T |
C |
15: 80,902,274 (GRCm39) |
S349G |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 49,015,900 (GRCm39) |
S1859P |
possibly damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,167,712 (GRCm39) |
D728E |
probably benign |
Het |
| Or1j8 |
A |
G |
2: 36,192,387 (GRCm39) |
T279A |
probably benign |
Het |
| Or8c19-ps1 |
G |
T |
9: 38,220,516 (GRCm39) |
V142F |
probably benign |
Het |
| Pcdhb18 |
A |
T |
18: 37,624,562 (GRCm39) |
S631C |
probably damaging |
Het |
| Pcdhga11 |
C |
A |
18: 37,890,364 (GRCm39) |
Y457* |
probably null |
Het |
| Pcdhga5 |
T |
C |
18: 37,829,823 (GRCm39) |
I757T |
probably benign |
Het |
| Pcgf5 |
G |
A |
19: 36,389,348 (GRCm39) |
|
probably benign |
Het |
| Pdf |
A |
G |
8: 107,775,100 (GRCm39) |
V44A |
possibly damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,166,503 (GRCm39) |
T194A |
possibly damaging |
Het |
| Prtg |
A |
T |
9: 72,819,583 (GRCm39) |
*1192L |
probably null |
Het |
| Ptk7 |
A |
G |
17: 46,877,193 (GRCm39) |
F955S |
possibly damaging |
Het |
| Rbp3 |
C |
A |
14: 33,684,492 (GRCm39) |
Q1174K |
possibly damaging |
Het |
| Rufy1 |
T |
C |
11: 50,321,796 (GRCm39) |
D46G |
possibly damaging |
Het |
| Sbf2 |
A |
G |
7: 109,948,202 (GRCm39) |
V1216A |
probably benign |
Het |
| Serpina11 |
A |
G |
12: 103,952,722 (GRCm39) |
V18A |
unknown |
Het |
| Serpinb6a |
T |
A |
13: 34,115,543 (GRCm39) |
N47I |
probably damaging |
Het |
| Shc2 |
T |
C |
10: 79,456,924 (GRCm39) |
H564R |
probably damaging |
Het |
| Sirt7 |
T |
A |
11: 120,514,888 (GRCm39) |
R115* |
probably null |
Het |
| Slc22a14 |
A |
T |
9: 119,059,290 (GRCm39) |
|
probably benign |
Het |
| Stra8 |
T |
A |
6: 34,912,581 (GRCm39) |
S331T |
probably damaging |
Het |
| Tm9sf2 |
A |
G |
14: 122,380,883 (GRCm39) |
T324A |
probably benign |
Het |
| Tmem268 |
T |
C |
4: 63,498,530 (GRCm39) |
S224P |
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,976,407 (GRCm39) |
D1147G |
probably damaging |
Het |
| Tomm22 |
C |
T |
15: 79,555,311 (GRCm39) |
|
probably benign |
Het |
| Top1 |
A |
G |
2: 160,556,158 (GRCm39) |
Y539C |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,009,552 (GRCm39) |
|
probably benign |
Het |
| Trav3-1 |
T |
C |
14: 52,818,428 (GRCm39) |
V34A |
probably damaging |
Het |
| Tspyl5 |
T |
C |
15: 33,687,238 (GRCm39) |
N236D |
possibly damaging |
Het |
| Ttc41 |
A |
G |
10: 86,565,679 (GRCm39) |
D411G |
probably benign |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,922 (GRCm39) |
M209L |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,355,527 (GRCm39) |
D3429E |
probably benign |
Het |
| Zfp418 |
A |
T |
7: 7,185,797 (GRCm39) |
T587S |
probably benign |
Het |
|
| Other mutations in Asxl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Asxl2
|
APN |
12 |
3,524,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01301:Asxl2
|
APN |
12 |
3,551,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01325:Asxl2
|
APN |
12 |
3,477,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01689:Asxl2
|
APN |
12 |
3,546,425 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01871:Asxl2
|
APN |
12 |
3,552,112 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02164:Asxl2
|
APN |
12 |
3,552,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02609:Asxl2
|
APN |
12 |
3,550,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03191:Asxl2
|
APN |
12 |
3,550,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Blinder
|
UTSW |
12 |
3,492,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Fob
|
UTSW |
12 |
3,534,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
peaky
|
UTSW |
12 |
3,526,040 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
ANU18:Asxl2
|
UTSW |
12 |
3,551,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0092:Asxl2
|
UTSW |
12 |
3,546,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0118:Asxl2
|
UTSW |
12 |
3,546,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Asxl2
|
UTSW |
12 |
3,492,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Asxl2
|
UTSW |
12 |
3,492,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0584:Asxl2
|
UTSW |
12 |
3,546,632 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0885:Asxl2
|
UTSW |
12 |
3,551,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1344:Asxl2
|
UTSW |
12 |
3,543,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Asxl2
|
UTSW |
12 |
3,551,872 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1829:Asxl2
|
UTSW |
12 |
3,507,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Asxl2
|
UTSW |
12 |
3,524,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Asxl2
|
UTSW |
12 |
3,534,558 (GRCm39) |
nonsense |
probably null |
|
|
R2074:Asxl2
|
UTSW |
12 |
3,543,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2883:Asxl2
|
UTSW |
12 |
3,551,830 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2912:Asxl2
|
UTSW |
12 |
3,524,517 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4446:Asxl2
|
UTSW |
12 |
3,551,774 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4662:Asxl2
|
UTSW |
12 |
3,477,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4726:Asxl2
|
UTSW |
12 |
3,551,872 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5034:Asxl2
|
UTSW |
12 |
3,552,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5287:Asxl2
|
UTSW |
12 |
3,546,893 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5377:Asxl2
|
UTSW |
12 |
3,524,618 (GRCm39) |
splice site |
probably null |
|
|
R5611:Asxl2
|
UTSW |
12 |
3,534,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5708:Asxl2
|
UTSW |
12 |
3,550,603 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5945:Asxl2
|
UTSW |
12 |
3,550,439 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6154:Asxl2
|
UTSW |
12 |
3,546,593 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6288:Asxl2
|
UTSW |
12 |
3,526,040 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6405:Asxl2
|
UTSW |
12 |
3,543,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6938:Asxl2
|
UTSW |
12 |
3,526,149 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7146:Asxl2
|
UTSW |
12 |
3,507,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7354:Asxl2
|
UTSW |
12 |
3,505,637 (GRCm39) |
intron |
probably benign |
|
|
R7396:Asxl2
|
UTSW |
12 |
3,492,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7438:Asxl2
|
UTSW |
12 |
3,477,108 (GRCm39) |
start gained |
probably benign |
|
|
R7980:Asxl2
|
UTSW |
12 |
3,546,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7991:Asxl2
|
UTSW |
12 |
3,534,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8063:Asxl2
|
UTSW |
12 |
3,550,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8156:Asxl2
|
UTSW |
12 |
3,546,760 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8396:Asxl2
|
UTSW |
12 |
3,552,220 (GRCm39) |
missense |
probably benign |
|
|
R8792:Asxl2
|
UTSW |
12 |
3,546,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8827:Asxl2
|
UTSW |
12 |
3,550,501 (GRCm39) |
missense |
probably benign |
|
|
R9221:Asxl2
|
UTSW |
12 |
3,552,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9584:Asxl2
|
UTSW |
12 |
3,550,667 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9796:Asxl2
|
UTSW |
12 |
3,546,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Asxl2
|
UTSW |
12 |
3,524,589 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCTAATTATCTGCTGCATTACG -3'
(R):5'- AGTCAGACAGGTTCATGATGC -3'
Sequencing Primer
(F):5'- GTTTCGATTTGCTAAAATGGTGAC -3'
(R):5'- CAGACAGGTTCATGATGCTAGTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation